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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1842199358
Gene: C9orf72
HGNC
NCBI
Linked Data
dbSNP Id:
rs1820713519
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.27543307_27543308insAAGATTCTTGT , CM000671.2:g.27543307_27543308insAAGATTCTTGT
GRCh38
NC_000009.11:g.27543305_27543306insAAGATTCTTGT , CM000671.1:g.27543305_27543306insAAGATTCTTGT
GRCh37
NC_000009.10:g.27533305_27533306insAAGATTCTTGT
NCBI36
NG_031977.2:g.35559_35560insACAAGAATCTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000673600.1:c.*267+4807_*267+4808insACAAGAATCTT
ENSP00000500650.1:n.*267+4807_*267+4808insACAAGAATCTT
XR_001746639.2:n.837_838insACAAGAATCTT
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